Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

Autor:	Stefanie Smolders, Stéphanie Philtjens, David Crosiers, Anne Sieben, Elisabeth Hens, Bavo Heeman, Sara Van Mossevelde, Philippe Pals, Bob Asselbergh, Roberto Dos Santos Dias, Yannick Vermeiren, Rik Vandenberghe, Sebastiaan Engelborghs, Peter Paul De Deyn, Jean-Jacques Martin, Patrick Cras, Wim Annaert, Christine Van Broeckhoven, BELNEU consortium
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Lewy body disease Dementia with lewy bodies DLB Parkinson’s disease PD Vacuolar protein sorting 13 homolog C Neurology. Diseases of the nervous system RC346-429
Zdroj:	Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-15 (2021)
Druh dokumentu:	article
ISSN:	2051-5960 29071534
DOI:	10.1186/s40478-021-01121-w
Popis:	Abstract Dementia with Lewy bodies (DLB) and Parkinson’s disease (PD) are clinically, pathologically and etiologically disorders embedded in the Lewy body disease (LBD) continuum, characterized by neuronal α-synuclein pathology. Rare homozygous and compound heterozygous premature termination codon (PTC) mutations in the Vacuolar Protein Sorting 13 homolog C gene (VPS13C) are associated with early-onset recessive PD. We observed in two siblings with early-onset age (
Databáze:	Directory of Open Access Journals
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